Canonical Allele Identifier: CA399727292

Gene: G6PC3

Linked Data

• dbSNP Id: rs2050070785
• gnomAD v3: 17-44075313-C-T
• gnomAD v4: 17-44075313-C-T
• MyVariant Identifiers: chr17:g.42152681C>T (hg19) ; chr17:g.44075313C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075313C>T , CM000679.2:g.44075313C>T	GRCh38
NC_000017.10:g.42152681C>T , CM000679.1:g.42152681C>T	GRCh37
NC_000017.9:g.39508207C>T	NCBI36
NG_015818.1:g.9584C>T , LRG_182:g.9584C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585361.6:c.*376C>T	ENSP00000466983.1:n.*376C>T
ENST00000588558.6:c.*514C>T	ENSP00000467624.1:n.*514C>T
ENST00000590253.3:c.420C>T	ENSP00000465111.2:p.Arg140=
ENST00000593115.2:c.*560C>T	ENSP00000466821.1:n.*560C>T
ENST00000696383.1:c.194C>T	ENSP00000512593.1:p.Ala65Val
ENST00000696384.1:c.*99C>T	ENSP00000512594.1:n.*99C>T
ENST00000696385.1:c.*257C>T	ENSP00000512595.1:n.*257C>T
ENST00000696386.1:c.222C>T	ENSP00000512596.1:p.Arg74=
ENST00000696387.1:c.*166C>T	ENSP00000512597.1:n.*166C>T
ENST00000696388.1:c.*385C>T	ENSP00000512598.1:n.*385C>T
ENST00000696389.1:c.*570C>T	ENSP00000512599.1:n.*570C>T
ENST00000696390.1:c.329C>T	ENSP00000512600.1:p.Ala110Val
ENST00000696391.1:c.*395C>T	ENSP00000512601.1:n.*395C>T
ENST00000696392.1:c.539C>T	ENSP00000512602.1:p.Ala180Val
ENST00000696393.1:c.539C>T	ENSP00000512603.1:p.Ala180Val
ENST00000696405.1:c.539C>T	ENSP00000512607.1:p.Ala180Val
ENST00000269097.9:c.539C>T MANE Select	ENSP00000269097.3:p.Ala180Val
ENST00000269097.8:c.539C>T	ENSP00000269097.3:p.Ala180Val
ENST00000585361.5:c.*376C>T	ENSP00000466983.1:n.*376C>T
ENST00000588558.5:c.*514C>T	ENSP00000467624.1:n.*514C>T
ENST00000590253.2:c.41C>T
ENST00000590639.1:n.560C>T
ENST00000591696.1:c.431C>T	ENSP00000468677.1:p.Ala144Val
NM_138387.3:c.539C>T , LRG_182t1:c.539C>T	NP_612396.1:p.Ala180Val
NR_028581.1:n.969C>T
NR_028582.1:n.834C>T
XM_006722179.2:c.420C>T	XP_006722242.1:p.Arg140=
XM_011525473.1:c.194C>T	XP_011523775.1:p.Ala65Val
XM_011525474.1:c.194C>T	XP_011523776.1:p.Ala65Val
NM_001319945.1:c.420C>T	NP_001306874.1:p.Arg140=
XM_011525473.3:c.194C>T	XP_011523775.1:p.Ala65Val
XM_011525474.3:c.194C>T	XP_011523776.1:p.Ala65Val
XM_017025335.2:c.194C>T	XP_016880824.1:p.Ala65Val
NM_001319945.2:c.420C>T	NP_001306874.1:p.Arg140=
NR_028581.2:n.788C>T
NR_028582.2:n.653C>T
NM_001384165.1:c.194C>T	NP_001371094.1:p.Ala65Val
NM_001384166.1:c.194C>T	NP_001371095.1:p.Ala65Val
NM_001384167.1:c.194C>T	NP_001371096.1:p.Ala65Val
NM_001384168.1:c.194C>T	NP_001371097.1:p.Ala65Val
NM_138387.4:c.539C>T MANE Select	NP_612396.1:p.Ala180Val